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View article: Mondo: Integrating Disease Terminology Across Communities
Mondo: Integrating Disease Terminology Across Communities Open
Precision medicine aims to enhance diagnosis, treatment, and prognosis by integrating multimodal data at the point of care. However, challenges arise due to the vast number of diseases, differing methods of classification, and conflicting …
View article: Impact of Preexisting Rare Diseases on COVID-19 Severity, Reinfection, and Long COVID, and the Modifying Effects of Vaccination and Antiviral Therapy: A Retrospective Study from the N3C Data Enclave
Impact of Preexisting Rare Diseases on COVID-19 Severity, Reinfection, and Long COVID, and the Modifying Effects of Vaccination and Antiviral Therapy: A Retrospective Study from the N3C Data Enclave Open
Background Over 10,000 rare diseases (RDs) affect more than 300 million people globally, yet their influence on COVID-19 severity, reinfection risk, and long COVID remains poorly understood. This study evaluates the impact of RDs on these …
View article: INTERRELATIONSHIPS BETWEEN RENIN–ANGIOTENSIN–ALDOSTERONE SYSTEM INDICATORS AND ENDOTHELIAL DYSFUNCTION MARKERS IN PATIENTS WITH HYPERTENSION AND PAROXYSMAL ATRIAL FIBRILLATION
INTERRELATIONSHIPS BETWEEN RENIN–ANGIOTENSIN–ALDOSTERONE SYSTEM INDICATORS AND ENDOTHELIAL DYSFUNCTION MARKERS IN PATIENTS WITH HYPERTENSION AND PAROXYSMAL ATRIAL FIBRILLATION Open
Introduction. Hypertension and paroxysmal atrial fibrillation are among the most prevalent cardiovascular conditions, with their incidence steadily increasing with age. The comorbidity of these two diseases is commonly observed in clinical…
View article: Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes
Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes Open
Background Identifying rare disease (RD) patients in electronic health records (EHR) is challenging, as more than 10,000 rare diseases are not typically captured by clinical coding systems. This limits the assessment of clinical outcomes f…
View article: Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI)
Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI) Open
Background Ontologies are fundamental components of informatics infrastructure in domains such as biomedical, environmental, and food sciences, representing consensus knowledge in an accurate and computable form. However, their constructio…
View article: The division of rare diseases research innovation at the national center for advancing translational sciences, NIH: mission, history, and current research activities
The division of rare diseases research innovation at the national center for advancing translational sciences, NIH: mission, history, and current research activities Open
The mission of the NCATS Division of Rare Diseases Research Innovation (DRDRI), formerly known as the Office of Rare Diseases Research, is to advance rare diseases research to benefit patients. DRDRI is part of the National Center for Adva…
View article: ACTIVATION OF THE IMMUNE-INFLAMMATORY RESPONSE AMONG PATIENTS WITH COMMUNITY-ACQUIRED PNEUMONIA ASSOCIATED WITH CORONAVIRUS INFECTION
ACTIVATION OF THE IMMUNE-INFLAMMATORY RESPONSE AMONG PATIENTS WITH COMMUNITY-ACQUIRED PNEUMONIA ASSOCIATED WITH CORONAVIRUS INFECTION Open
The aim of the study is to determine the levels of markers of the immune-inflammatory response in patients with community-acquired pneumonia associated with coronavirus infection. Materials and methods. An open, prospective, observational …
View article: User Centered Rare Disease Clinical Trial Knowledge Graph (RCTKG)
User Centered Rare Disease Clinical Trial Knowledge Graph (RCTKG) Open
Drug development in rare diseases is challenging due to the limited availability of subjects with the diseases and recruiting from a small patient population. The high cost and low success rate of clinical trials motivate deliberate analys…
View article: Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI)
Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI) Open
Background: Ontologies are fundamental components of informatics infrastructure in domains such as biomedical, environmental, and food sciences, representing consensus knowledge in an accurate and computable form. However, their constructi…
View article: THE ALGORITHM FOR THE TREATMENT OF PATIENTS WITH TREATMENT-RESISTANT HYPERTENSION AT THE OUTPATIENT STAGE
THE ALGORITHM FOR THE TREATMENT OF PATIENTS WITH TREATMENT-RESISTANT HYPERTENSION AT THE OUTPATIENT STAGE Open
Every year in the world, arterial hypertension is the cause of death in about 9 million cases. Blood pressure control in patients has not yet reached the appropriate level, and the percentage of resistant arterial hypertension remains high…
View article: DEIA is essential to advance the goals of translational science: Perspectives from NCATS
DEIA is essential to advance the goals of translational science: Perspectives from NCATS Open
The National Center for Advancing Translational Science (NCATS) seeks to improve upon the translational process to advance research and treatment across all diseases and conditions and bring these interventions to all who need them. Addres…
View article: Rare disease-based scientific annotation knowledge graph
Rare disease-based scientific annotation knowledge graph Open
Rare diseases (RDs) are naturally associated with a low prevalence rate, which raises a big challenge due to there being less data available for supporting preclinical and clinical studies. There has been a vast improvement in our understa…
View article: Recurrent Neural Networks to Automatically Identify Rare Disease Epidemiologic Studies from PubMed.
Recurrent Neural Networks to Automatically Identify Rare Disease Epidemiologic Studies from PubMed. Open
Rare diseases affect between 25 and 30 million people in the United States, and understanding their epidemiology is critical to focusing research efforts. However, little is known about the prevalence of many rare diseases. Given a lack of…
View article: The extracellular matrix degradation markers as predictors of left ventricular systolic dysfunction among patients with STEMI
The extracellular matrix degradation markers as predictors of left ventricular systolic dysfunction among patients with STEMI Open
The purpose of the study. To determine predictor value of the extracellular matrix degradation markers relative to the occurrence of left ventricular systolic dysfunction among patients with STEMI determined.
Materials and methods. The re…
View article: The Peculiarity of Left Ventricular Remodeling in Patients with Hypertension Developing Acute Myocardial Infarction
The Peculiarity of Left Ventricular Remodeling in Patients with Hypertension Developing Acute Myocardial Infarction Open
The purpose of the study was to determine the peculiarity of left ventricular remodeling among patients with hypertension developing acute myocardial infarction. Material and methods. The results of the study are based on the data of a com…
View article: Additional file 1 of Scientific evidence based rare disease research discovery with research funding data in knowledge graph
Additional file 1 of Scientific evidence based rare disease research discovery with research funding data in knowledge graph Open
Additional file 1. 32 root disease categories from MONDO.
View article: Prospects of the Artificial Organs Structures 3D Printing Technology
Prospects of the Artificial Organs Structures 3D Printing Technology Open
Transplantation technologies are now highly effective modern methods of medical care for patients with irreversible stage of chronic diseases of vital organs. The success of transplantology allowed to start solving the problems of improvin…
View article: DOSE-DEPENDENT EFFECT OF STATINS ON THE PASSAGE OF CHD AMONG PATIENTS AFTER PRIMARY MYOCARDIAL INFARCTION
DOSE-DEPENDENT EFFECT OF STATINS ON THE PASSAGE OF CHD AMONG PATIENTS AFTER PRIMARY MYOCARDIAL INFARCTION Open
DOSE-DEPENDENT EFFECT OF STATINS ON THE PASSAGE OF CHD AMONG PATIENTS AFTER PRIMARY MYOCARDIAL INFARCTION
View article: Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study
Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study Open
Background Although many efforts have been made to develop comprehensive disease resources that capture rare disease information for the purpose of clinical decision making and education, there is no standardized protocol for defining and …
View article: DIASTOLIC FUNCTION OF LEFT VENTRICLE IN PATIENTS WITH CORONARY ARTERY DISEASE DURING THE DEVELOPMENT OF ACUTE MYOCARDIAL INFARCTION
DIASTOLIC FUNCTION OF LEFT VENTRICLE IN PATIENTS WITH CORONARY ARTERY DISEASE DURING THE DEVELOPMENT OF ACUTE MYOCARDIAL INFARCTION Open
Acute myocardial infarction is still remaining as one of the most challenging in modern cardiology. Impaired diastolic function of the left ventricle is one of the manifestations of myocardial dysfunction in coronary heart disease and one …
View article: The dynamics of endothelial dysfunction markers among patients with pulmonary hypertension on the background of chronic obstructive pulmonary disease under the influence of treatment
The dynamics of endothelial dysfunction markers among patients with pulmonary hypertension on the background of chronic obstructive pulmonary disease under the influence of treatment Open
The objective of the research - to determine the dynamics of endothelial dysfunction markers among patients with pulmonary hypertension on the background of chronic obstructive pulmonary disease under the influence of treatment.Material an…
View article: Relationships between markers of extracellular matrix degradation and systemic inflammatory response among patients with acute myocardial infarction
Relationships between markers of extracellular matrix degradation and systemic inflammatory response among patients with acute myocardial infarction Open
Despite all the preventive, diagnostic and therapeutic possibilities of our time, diseases of the circulatory system are the leading causes of death among adult population both in the world and in Ukraine. Modern consensuses of the Europea…